Article
Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3' Splice Site Selection through Use of a Different Branch Point.
Cell reports - 3 Nov 2015
Darman Rachel B, Seiler Michael, Agrawal Anant A, Lim Kian H, Peng Shouyong, Aird Daniel, Bailey Suzanna L, Bhavsar Erica B, Chan Betty, Colla Simona, Corson Laura, Feala Jacob, Fekkes Peter, Ichikawa Kana, Keaney Gregg F, Lee Linda, Kumar Pavan, Kunii Kaiko, MacKenzie Crystal, Matijevic Mark, Mizui Yoshiharu, Myint Khin, Park Eun Sun, Puyang Xiaoling, Selvaraj Anand, Thomas Michael P, Tsai Jennifer, Wang John Y, Warmuth Markus, Yang Hui, Zhu Ping, Garcia-Manero Guillermo, Furman Richard R, Yu Lihua, Smith Peter G, Buonamici Silvia
Abstract excerpt
Recurrent mutations in the spliceosome are observed in several human cancers, but their functional and therapeutic significance remains elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of the branch point sequence (BPS) during selection of the 3' splice site (ss) in RNA splicing. Here, we report that common and tumor-specific splicing aberrations...
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